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Article

FLCN: The causative gene for Birt-Hogg-Dubé syndrome.

Gene - 15 Jan 2018

Schmidt Laura S, Linehan W Marston

Abstract excerpt

Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. Although the encoded protein, folliculin (FLCN), has no sequence homology to known functional domains, x-ray crystallographic studies...

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Source

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Identifiers

PMID: 28970150
DOI: 10.1016/j.gene.2017.09.044
PMCID: PMC5682220

Genes

FLCN
FNIP1
FNIP2
TFEB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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